Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes

[1]  E. Alpeeva,et al.  Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer , 2020, Cells.

[2]  Ming Li,et al.  Novel and recurrent PHGDH and PSAT1 mutations in Chinese patients with Neu-Laxova syndrome , 2019, European Journal of Dermatology.

[3]  R. Uehara,et al.  Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan. , 2019, Journal of the American Academy of Dermatology.

[4]  L. Fachal,et al.  A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations , 2019, Molecular genetics & genomic medicine.

[5]  M. Akiyama,et al.  Cross-sectional survey on disease severity in Japanese patients with harlequin ichthyosis/ichthyosis: Syndromic forms and quality-of-life analysis in a subgroup. , 2018, Journal of dermatological science.

[6]  H. Brandling-Bennett,et al.  An atypical presentation of herpes simplex virus infection in Harlequin ichthyosis , 2018, Pediatric dermatology.

[7]  E. Tan,et al.  Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis , 2018, BMJ Case Reports.

[8]  M. Yılmaz,et al.  Neuro-ichthyotic Syndromes: A Case Series , 2018, Journal of pediatric neurosciences.

[9]  J. Fischer,et al.  Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment , 2017, American Journal of Clinical Dermatology.

[10]  A. Dalal,et al.  Harlequin ichthyosis: A rare case , 2017, Turkish journal of obstetrics and gynecology.

[11]  D. Jopp,et al.  Personality and its links to quality of life: Mediating effects of emotion regulation and self-efficacy beliefs , 2017, Motivation and Emotion.

[12]  Weiguo Feng,et al.  Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis , 2016, PloS one.

[13]  L. de Meirleir,et al.  Shwachman–Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype , 2016, American journal of medical genetics. Part A.

[14]  E. Sprecher,et al.  Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy , 2016, Clinical and experimental dermatology.

[15]  M. Akiyama,et al.  Inherited ichthyosis: Non‐syndromic forms , 2016, The Journal of dermatology.

[16]  J. Restrepo.  Correlatos cognitivos y neuropsicológicos de los cinco grandes: una revisión en el área de la neurociencia de la personalidad , 2015 .

[17]  M. Akiyama,et al.  Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan , 2015, Pediatrics international : official journal of the Japan Pediatric Society.

[18]  M. Akiyama,et al.  Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. , 2015, Journal of dermatological science.

[19]  M. Akiyama.  The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation. , 2014, Biochimica et biophysica acta.

[20]  J. Toribio,et al.  Ictiosis congénitas autosómicas recesivas , 2013 .

[21]  O. Sarig,et al.  The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12 , 2013, Experimental Dermatology.

[22]  C. DeYoung,et al.  Motivation and Personality: A Neuropsychological Perspective , 2013 .

[23]  C. Bodemer,et al.  Family burden in inherited ichthyosis: creation of a specific questionnaire , 2013, Orphanet Journal of Rare Diseases.

[24]  C. Fauth,et al.  Inherited ichthyoses/generalized Mendelian disorders of cornification , 2012, European Journal of Human Genetics.

[25]  D. Kelsell,et al.  Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. , 2011, Archives of dermatology.

[26]  C. Bodemer,et al.  Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. , 2010, Journal of the American Academy of Dermatology.

[27]  M. Akiyama.  ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic concepts a , 2010, Human mutation.

[28]  M. del Río,et al.  X-Linked Ichthyosis along with Recessive Dystrophic Epidermolysis Bullosa in the Same Patient , 2010, Dermatology.

[29]  R. Paus,et al.  Highly complex peptide aggregates of the S100 fused-type protein hornerin are present in human skin. , 2009, Journal of Investigative Dermatology.

[30]  김세진,et al.  한국판 Beck Anxiety Inventory의 확인적 요인분석 , 2007 .

[31]  Paola María Botero Mariaca,et al.  Manual de historia clínica odontológica del escolar , 2016 .

[32]  S. Nayak,et al.  Fetal Harlequin Ichthyosis – A Case Report , 2015 .

[33]  N. N. Zárate,et al.  Remodelación ósea mandibular en adultos , 2009 .